RNAseq analysis for the diagnosis of muscular dystrophy.
Research paper by
Hernan H Gonorazky, Minggao M Liang, Beryl B Cummings, Monkol M Lek, Johann J Micallef, Cynthia C Hawkins, Raveen R Basran, Ronald R Cohn, Michael D MD Wilson, Daniel D MacArthur, Christian R CR Marshall, Peter N PN Ray, James J JJ Dowling
The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole-exome sequencing and next-generation sequencing-based gene panels. In this study, we identify a deep intronic mutation in the DMD gene in a patient with muscular dystrophy using both conventional and RNAseq-based transcriptome analyses. The implications of our data are that noncoding mutations likely comprise an important source of unresolved genetic disease and that RNAseq is a powerful platform for detecting such mutations.